ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827767566
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12886
ClinVar RCV Id:
RCV000013746
RCV000059433
RCV003992151
RCV001385324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ile1645Met
CA256596
NM_001353950.2:c.4935C>G